一名唐氏综合征婴儿出现基底神经节和小脑髓鞘形成减少伴萎缩。 - Suppr | 超能文献

Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome.

作者信息

Narumi Yoko, Shiihara Takashi, Yoshihashi Hiroshi, Sakazume Satoru, van der Knaap Marjo S, Nishimura-Tadaki Akira, Matsumoto Naomichi, Fukushima Yoshimitsu

机构信息

Division of Medical Genetics Division of Neurology, Gunma Children's Medical Center, Shibukawa Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Koshigaya Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.

出版信息

Clin Dysmorphol. 2011 Jul;20(3):166-167. doi: 10.1097/MCD.0b013e32834659a8.

DOI:10.1097/MCD.0b013e32834659a8

Abstract

摘要

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1

Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome.一名唐氏综合征婴儿出现基底神经节和小脑髓鞘形成减少伴萎缩。

Clin Dysmorphol. 2011 Jul;20(3):166-167. doi: 10.1097/MCD.0b013e32834659a8.

2

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.伴有基底神经节和小脑萎缩的髓鞘形成不良：对表型及基因型-表型相关性的进一步描述

Brain. 2014 Jul;137(Pt 7):1921-30. doi: 10.1093/brain/awu110. Epub 2014 Apr 30.

3

[A boy with hypomyelination with atrophy of the basal ganglia and cerebellum].[一名患有基底神经节和小脑髓鞘形成低下伴萎缩的男孩]

No To Hattatsu. 2010 Jan;42(1):42-4.

4

Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).新型TUBB4A突变与基底神经节和小脑萎缩性低髓鞘症（H-ABC）神经影像学表型的扩展

Am J Med Genet A. 2014 Jul;164A(7):1802-7. doi: 10.1002/ajmg.a.36526. Epub 2014 Apr 4.

5

Hypomyelination with atrophy of the basal ganglia and cerebellum: case report.基底节和小脑髓鞘形成不良伴萎缩：病例报告

Arq Neuropsiquiatr. 2007 Mar;65(1):161-3. doi: 10.1590/s0004-282x2007000100033.

6

[Hypomyelination with atrophy of the basal ganglia and cerebellum. Contribution of two new cases to a recently reported entity].[基底神经节和小脑髓鞘形成减少伴萎缩。两例新病例对最近报道的一种疾病的贡献]

Rev Neurol. 2014 Feb 16;58(4):161-5.

7

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case.伴有基底节和小脑萎缩的髓鞘形成低下（H-ABC）。1例新病例报告。

Neuropediatrics. 2005 Jun;36(3):223-6. doi: 10.1055/s-2005-865715.

8

Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology.基底神经节和小脑髓鞘形成不良伴萎缩：随访与病理

Neurology. 2007 Jul 10;69(2):166-71. doi: 10.1212/01.wnl.0000265592.74483.a6.

9

Effective treatment with levodopa and carbidopa for hypomyelination with atrophy of the basal ganglia and cerebellum.左旋多巴和卡比多巴有效治疗基底神经节和小脑髓鞘形成低下伴萎缩。

Tohoku J Exp Med. 2006 Jun;209(2):163-7. doi: 10.1620/tjem.209.163.

10

[Symmetrical pseudocalcium deposits in the basal ganglia and white matter of the brain with moderate leukoencephalopathy in Down's syndrome].

Neuropadiatrie. 1974 Feb;5(1):103-8. doi: 10.1055/s-0028-1091692.

引用本文的文献

1

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.伴有基底神经节和小脑萎缩的髓鞘形成不良：对表型及基因型-表型相关性的进一步描述

Brain. 2014 Jul;137(Pt 7):1921-30. doi: 10.1093/brain/awu110. Epub 2014 Apr 30.

2

Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).新型TUBB4A突变与基底神经节和小脑萎缩性低髓鞘症（H-ABC）神经影像学表型的扩展

Am J Med Genet A. 2014 Jul;164A(7):1802-7. doi: 10.1002/ajmg.a.36526. Epub 2014 Apr 4.

3

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.一个新出现的β-微管蛋白基因 TUBB4A 突变导致脑白质营养不良伴基底节和小脑萎缩。

Am J Hum Genet. 2013 May 2;92(5):767-73. doi: 10.1016/j.ajhg.2013.03.018. Epub 2013 Apr 11.